ArticleIndian pediatrics2025
Clinical Profile, Genotypes, and Outcomes in Children with Pyridoxine Dependent Epilepsy (PDE): A Single Center Experience from Southern India.
Article in Indian pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Burden and severity of inherited monoamine neurotransmitter rare genetic disorders in India.Orphanet journal of rare diseases · 2026Review
- Hypoglycorrhachia: From Glucose Transporter Type 1 Deficiency Syndrome (GLUT1DS) to Pyridox(am)ine-5'-Phosphate Oxidase (PNPO) Deficiency: A Fifteen-Year Diagnostic Journey Redefined by Genomic Insights.Indian journal of pediatrics · 2026Article
- Attention-deficit/hyperactivity disorder in India: epidemiology, diagnostic inequities, treatment gaps, and public mental health implications.Frontiers in psychiatry · 2026Review
- Is Vitamin B6 a Precision Therapy for Neonatal Seizures?Neurology international · 2025Review
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Authors and funding
6 authors.
Funding
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Abstract
objectiveTo describe the clinical, laboratory profile, and outcome of Indian children with pyridoxine-dependent epilepsy (PDE).
methodsRetrospective chart reviews of all children with a genetically confirmed diagnosis of PDE between April 2012 and March 2024 were included; clinical and laboratory data were analyzed.
resultsTwenty-two children (13 boys) were diagnosed with PDE and all presented with seizures and encephalopathy. Oculogyric crisis was observed in majority (n = 20, 91%) cases. Variants were identified in ALDH7A1 (17), PLPBP (4), and PNPO (1) genes in the current cohort. One child expired within 24 h of initiation of pyridoxine. Another child had refractory seizures, two had epileptic spasms and seven had provoked seizures. Autistic features were noted in two and attention deficit hyperactivity disorder (ADHD) in 15 children.
conclusionSeizures, encephalopathy, and oculogyric crisis help are clinical cues to aid in early diagnosis of PDE. PDE may be associated with comorbidities like autism and ADHD.
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